CONTINUUM Lifelong Learning in Neurology最新文献

Objective: Parkinson disease (PD) is a neurodegenerative movement disorder that is increasing in prevalence especially as the population continues to age. This article provides an overview of the clinical presentation and evaluation for PD, genetic and environmental risk factors, and current treatments.

Latest developments: New treatments for motor symptoms of PD (eg, motor fluctuations, extending "on time"), including istradefylline and opicapone, have been approved. A subcutaneous pump to provide dopaminergic agents to patients is now available. Additionally, skin biopsy staining for α-synuclein has become a viable option for patients with diagnostic uncertainty of synucleinopathy.

Essential points: PD is a heterogeneous neurodegenerative movement disorder with many potential presentations. Both motor and nonmotor symptoms are present during the disease course, and symptomatic medication and advanced surgical techniques have the potential to improve quality of life. Patients living with PD may manifest improvement in symptoms and quality of life from behavioral, pharmacologic, and surgical interventions. There remains no clear intervention to modify the progression of PD.

Objective: This article provides up-to-date diagnosis and management concepts for patients with multiple system atrophy, a rare, sporadic, adult-onset, progressive, and fatal neurodegenerative disorder that is characterized mainly by autonomic and motor dysfunction.

Latest developments: Making an accurate and early diagnosis of multiple system atrophy remains challenging because of its clinical complexity and similarity in presentation to other neurodegenerative diseases. The clinical diagnosis of multiple system atrophy is based on the patient's symptoms of autonomic dysfunction with levodopa-resistant parkinsonism or cerebellar ataxia, alongside neuroimaging characteristics and exclusion of mimics. The 2022 International Parkinson and Movement Disorder Society criteria enable an accurate and early diagnosis of clinically established multiple system atrophy, clinically probable multiple system atrophy, prodromal possible multiple system atrophy, and the definite pathologic diagnosis of multiple system atrophy. The management of multiple system atrophy remains symptomatic in the control of parkinsonism, ataxia, autonomic dysfunction, and other motor and nonmotor symptoms, with an updated multidisciplinary and multisystem approach including palliative care. Advances in brain imaging and molecular biomarker research and efforts to develop disease-modifying agents have shown promise to improve diagnosis and treatment of this disorder.

Essential points: Updated standards guide the clinical diagnosis and management of multiple system atrophy with a multidisciplinary and multisystem approach, and this article summarizes clinical best practices and emerging advances in multiple system atrophy.

Objective: This article presents a systematic approach to the diagnosis and management of choreiform disorders, focusing on Huntington disease (HD) as a model.

Latest developments: The availability of genetic testing and imaging biomarkers has led to changes in the definition of HD, which has shifted toward pathologic instead of clinical markers. A third vesicular monoamine transporter 2 inhibitor, valbenazine, is available for the management of chorea in HD. There has been an ongoing focus targeting the early neurodegenerative process in the development of disease-modifying strategies across the spectrum of HD pathophysiology. Approaches include antisense oligonucleotides and micro-RNA, which aim to treat by lowering the abnormal huntingtin protein.

Essential points: Chorea is a hyperkinetic movement occurring in a variety of conditions in both children and adults. This article reviews the identification of chorea and the diagnostic approach to genetic and acquired forms, with a focus on the genetics, presentation, and treatment of HD. The author discusses the diverse landscape of choreiform disorders.

Objective: This article describes the approach to diagnosis and management of patients with progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS).

Latest developments: The clinical criteria for both PSP and CBS have expanded to include the broad phenotypic spectrum of these disorders. There is significant overlap among features of PSP and CBS, both clinically and neuropathologically, and early recognition of these disorders remains challenging. Use of novel clinical criteria increases the sensitivity and accuracy of clinician diagnosis. Advances in brain imaging techniques, such as MRI and positron emission tomography (PET), as well as fluid biomarkers, may help in diagnosis. For CBS, there is increasing recognition of varied neuropathology and differences in tau filaments, which may differentiate the disorder from PSP and other tauopathies.

Essential points: Careful attention to historical presentation, clinical features, and evolving diagnostic criteria and brain imaging techniques will help the clinician recognize the various PSP and CBS phenotypes. Early recognition is critical to provide appropriate treatment and supportive care, which ideally should involve a multidisciplinary team of allied health professionals, inclusive of the patient and the caregiver.

Objective: This article focuses on the epidemiology, diagnostic criteria, and clinical features of dystonia. The treatment of dystonia and controversies in the field are also addressed.

Latest developments: The latest international classification is in development to further refine diagnostic criteria for dystonia. This emphasis on classification highlights the importance of accurately recognizing clinical signs in a disorder requiring a diagnosis without a clear biomarker. Accurate workup and diagnosis facilitate appropriate treatment. The field of dystonia therapy now includes both neurostimulation and an expanding number of botulinum toxin options for the treatment of focal dystonia. Nonmotor symptoms of dystonia, including pain, mood disorders, and sleep disruption, have also been gaining recognition. Screening and treatment for these symptoms are becoming increasingly important.

Essential points: Dystonia is a variable movement disorder that can present as the sole motor manifestation of a disease or as a symptom within another disease process (ie, Parkinson disease). Swift recognition of the signs and symptoms of dystonia is the key to the clinical diagnosis and initiating appropriate treatment.

Objective: This article describes the clinical features of Tourette syndrome and its diagnostic criteria, etiology, and pathophysiology, as well as common myths associated with tic disorders. It discusses the behavioral, pharmacologic, neuromodulation, and alternative treatment approaches to tic disorders.

Latest developments: With the significant increase in functional ticlike behavior, especially during the COVID-19 pandemic, diagnostic criteria for functional ticlike behavior have been delineated to separate these ticlike movements from the tics observed in Tourette syndrome. Although behavioral therapy such as comprehensive behavioral intervention for tics remains the first-line treatment for tics, modifications to comprehensive behavioral intervention for tics have been developed to make this type of treatment more accessible. Pharmacologic trials for vesicular monoamine transporter 2 inhibitors have failed to meet the primary endpoint of tic reduction; however, they may still be helpful as add-on therapy for select individuals. A first-in-class compound called ecopipam met the primary endpoint for tic reduction and was well-tolerated, and may be a promising new treatment for Tourette syndrome. Deep brain stimulation may be considered for tics refractory to more conservative approaches.

Essential points: Tourette syndrome and tic disorders can substantially affect quality of life. Educating patients about the natural history and expected course of the disease is the most important first step in management. Choosing a treatment based on comorbidities, tic severity, and patient preference is crucial for a beneficial outcome.